(1) Objective: Breast cancer is the most common cancer in women, and the incidence of the disease continues to increase. The issue of immediate breast reconstruction (IBR) in women with BRCA mutations and breast cancer is highly topical. This study is based on the long-term experience of our workplace with the diagnosis and treatment of breast cancer in women. We use the possibilities of oncoplastic surgery, including IBR. Our effort involves learning about women's awareness of IBR with a mastectomy at the same time. (2) Methods: The method of quantitative research of women's awareness using a structured anonymous questionnaire was chosen. Out of the total number of 84 respondents who already underwent IBR, 36.9% were due to BRCA mutations, and 63.1% were due to breast cancer. (3) Results: All of the respondents learned about the possibility of IBR before treatment or during treatment planning. The information was first obtained mainly from an oncologist. Women obtained the most information regarding IBR from a plastic surgeon. Before the mastectomy, all of the respondents already knew what IBR meant, as well as about the payment of IBR by the health insurance company. All of the respondents would choose the IBR option again. A total of 94.0% of women cited preservation of body integrity as a reason for undergoing IBR, and 88.1% of women knew about the possibility of performing IBR with their own tissues. (4) Conclusions: There are few specialized centers with a team of experts in reconstructive breast surgery in the Czech Republic, especially those that perform IBR. Research has shown that all of the patients were well informed about IBR, but the vast majority only learned about IBR before the surgical procedure was planned. All of the women wished to maintain body integrity. Our study results in the recommendations for patients and for healthcare management.

• Keywords
• BRCA mutations, breast cancer, immediate breast reconstruction, mastectomy, patient awareness, questionnaire study,
• Publication type
• Journal Article MeSH

BACKGROUND: The incidence of breast cancer has doubled over the past 20 years in the Czech Republic. Hereditary factors may be a cause of young onset, bilateral breast or ovarian cancer, and familial accumulation of the disease. BRCA1 and BRCA2 mutations account for an important fraction of hereditary breast and ovarian cancer cases. One thousand and ten unrelated high-risk probands with breast and/or ovarian cancer were analysed for the presence of a BRCA1 or BRCA2 gene mutation at the Masaryk Memorial Cancer Institute (Czech Republic) during 1999-2006. METHODS: The complete coding sequences and splice sites of both genes were screened, and the presence of large intragenic rearrangements in BRCA1 was verified. Putative splice-site variants were analysed at the cDNA level for their potential to alter mRNA splicing. RESULTS: In 294 unrelated families (29.1% of the 1,010 probands) pathogenic mutations were identified, with 44 different BRCA1 mutations and 41 different BRCA2 mutations being detected in 204 and 90 unrelated families, respectively. In total, three BRCA1 founder mutations (c.5266dupC; c.3700_3704del5; p.Cys61Gly) and two BRCA2 founder mutations (c.7913_7917del5; c.8537_8538del2) represent 52% of all detected mutations in Czech high-risk probands. Nine putative splice-site variants were evaluated at the cDNA level. Three splice-site variants in BRCA1 (c.302-3C>G; c.4185G>A and c.4675+1G>A) and six splice-site variants in BRCA2 (c.475G>A; c.476-2>G; c.7007G>A; c.8755-1G>A; c.9117+2T>A and c.9118-2A>G) were demonstrated to result in aberrant transcripts and are considered as deleterious mutations. CONCLUSION: This study represents an evaluation of deleterious genetic variants in the BRCA1 and 2 genes in the Czech population. The classification of several splice-site variants as true pathogenic mutations may prove useful for genetic counselling of families with high risk of breast and ovarian cancer.

• MeSH
• Genetic Predisposition to Disease * MeSH
• Humans MeSH
• Mutation * MeSH
• DNA Mutational Analysis MeSH
• Breast Neoplasms, Male epidemiology   genetics   pathology   MeSH
• Breast Neoplasms epidemiology   genetics   pathology   MeSH
• Ovarian Neoplasms epidemiology   genetics   pathology   MeSH
• BRCA1 Protein genetics   MeSH
• BRCA2 Protein genetics   MeSH
• Risk Factors MeSH
• Age of Onset MeSH
• Check Tag
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Czech Republic MeSH
• Names of Substances
• BRCA1 Protein MeSH
• BRCA2 Protein MeSH